ZFIN Human Disease: immunodeficiency 14

OBO ID: DOID:0111936

Term Name:	immunodeficiency 14		Search Ontology:
Synonyms:	activated PI3K-delta syndrome APDS IMD14 PASLI disease senescent T-cells-lymphadenopathy-immunodeficiency syndrome due to p110delta-activating mutation
Definition:	A combined T cell and B cell immunodeficiency characterized by B- and T-cell abnormalities and onset of recurrent sinopulmonary and other infections in early childhood that has_material_basis_in heterozygous activating mutation in the PIK3CD gene on chromosome 1p36.22. (2)
References:	GARD:11983 MESH:C585640 NCI:C187988 OMIM:615513 ORDO:397596 SNOMEDCT_US_2023_03_01:711480000 UMLS_CUI:C3714976
Ontology:	Human Disease ( DOID:0111936 )

Relationships

is a type of:	autosomal dominant disease combined T cell and B cell immunodeficiency autosomal dominant disease combined T cell and B cell immunodeficiency Show first 5 Terms

OTHER immunodeficiency 14 PAGES

Alliance (1)

GENES INVOLVED

Human Gene	Zebrafish Ortholog	OMIM Term	OMIM Phenotype ID
PIK3CD	pik3cd	Immunodeficiency 14A, autosomal dominant	615513

ZEBRAFISH MODELS No data available

PHENOTYPE No data available

CITATIONS: None